DisGeNET - a database of gene-disease associations

SPECC1L, sperm antigen with calponin homology and coiled-coil domains 1 like, 23384

N. diseases: 117; N. variants: 12

Disease: Teebi syndrome ×

Variant: rs786201030 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs786201030

rs786201030

Entrez Id:	23384;101730217
Gene Symbol:	SPECC1L;SPECC1L-ADORA2A

SPECC1L;SPECC1L-ADORA2A

CUI:	C0796179
Disease:

Teebi syndrome

C

0.700

CausalMutation

CLINVAR